Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.45408744A>C | CA9515024 | ERCC1,POLR1G | c.*1164T>G (n.*1164T>G) c.*931T>G (n.*931T>G) c.776A>C (p.Lys259Thr) c.782A>C (p.Lys261Thr) n.2411T>G n.2881T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45408744A>G | CA406349083 | ERCC1,POLR1G | c.*1164T>C (n.*1164T>C) c.*931T>C (n.*931T>C) c.776A>G (p.Lys259Arg) c.782A>G (p.Lys261Arg) n.2411T>C n.2881T>C | dbSNP |